Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829935_68829936delinsGT , CM000685.2:g.68829935_68829936delinsGT | GRCh38 |
| NC_000023.10:g.68049778_68049779delinsGT , CM000685.1:g.68049778_68049779delinsGT | GRCh37 |
| NC_000023.9:g.67966503_67966504delinsGT | NCBI36 |
| NG_008887.1:g.5939_5940delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.128+31_128+32delinsGT MANE Select | ENSP00000204961.4:n.128+31_128+32delinsGT | |
| ENST00000204961.4:c.128+31_128+32delinsGT | ENSP00000204961.4:n.128+31_128+32delinsGT | |
| NM_004429.4:c.128+31_128+32delinsGT | NP_004420.1:n.128+31_128+32delinsGT | |
| NM_004429.5:c.128+31_128+32delinsGT MANE Select | NP_004420.1:n.128+31_128+32delinsGT |